title: Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.
abstract: Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the MITF gene of the WS type II cases and 1 novel homozygous mutation in the EDNRB gene of the WS type IV case. This is the first molecular study of patients from the Arab world. Additional cases will enable a more detailed description of the clinical spectrum of Waardenburg syndrome in this region.
authors.affiliation: Unité de Génétique Médicale et Laboratoire Associé INSERM UMR-S910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
authors.forename: N M
authors.initials: NM
authors.lastname: Haddad
authors.forename: D
authors.initials: D
authors.lastname: Ente
authors.forename: E
authors.initials: E
authors.lastname: Chouery
authors.forename: N
authors.initials: N
authors.lastname: Jalkh
authors.forename: C
authors.initials: C
authors.lastname: Mehawej
authors.forename: Z
authors.initials: Z
authors.lastname: Khoueir
authors.forename: V
authors.initials: V
authors.lastname: Pingault
authors.forename: A
authors.initials: A
authors.lastname: Mégarbané